Mutagenetix > Incidental Mutation

Incidental Mutation 'R1113:Pros1'

96962

Institutional Source

Beutler Lab

Gene Symbol

Pros1

Ensembl Gene

ENSMUSG00000022912

Gene Name

protein S (alpha)

Synonyms

protein S

MMRRC Submission

039186-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62674670-62749709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62734228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 345 (D345N)

Ref Sequence

ENSEMBL: ENSMUSP00000023629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023629]

AlphaFold

Q08761

Predicted Effect

probably damaging
Transcript: ENSMUST00000023629
AA Change: D345N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: D345N

Domain	Start	End	E-Value	Type
GLA	23	86	3.63e-31	SMART
EGF	120	155	4.39e-2	SMART
EGF_CA	157	200	6.91e-9	SMART
EGF_CA	201	242	5.23e-9	SMART
EGF_CA	243	283	1.1e-7	SMART
LamG	321	458	8.55e-22	SMART
LamG	506	646	1.57e-1	SMART

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.0%
20x: 82.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a vitamin K-dependent protein with key roles in multiple biological processes including coagulation, apoptosis and vasculogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein which is secreted into the plasma. Mice lacking the encoded protein die in utero from a fulminant coagulopathy and associated hemorrhages. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,982,984 (GRCm39)	E1423K	probably benign	Het
Angpt2	C	T	8: 18,742,134 (GRCm39)	W474*	probably null	Het
Cln6	A	G	9: 62,758,143 (GRCm39)	T301A	probably damaging	Het
G6pc2	A	T	2: 69,050,570 (GRCm39)	D65V	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Map3k6	T	C	4: 132,973,126 (GRCm39)	S395P	probably damaging	Het
Myo6	G	A	9: 80,152,996 (GRCm39)	V210I	probably damaging	Het
Otoa	C	A	7: 120,724,666 (GRCm39)	C448*	probably null	Het
Pate6	T	C	9: 35,700,385 (GRCm39)	T67A	probably benign	Het
Prkcg	G	C	7: 3,377,622 (GRCm39)	K525N	probably damaging	Het
Prss47	T	C	13: 65,199,630 (GRCm39)	H83R	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Tekt2	A	T	4: 126,218,711 (GRCm39)	L14H	probably damaging	Het
Tnpo2	T	C	8: 85,781,982 (GRCm39)	F857S	probably damaging	Het
Try4	G	T	6: 41,282,308 (GRCm39)	Q209H	possibly damaging	Het
Wdfy4	G	A	14: 32,693,695 (GRCm39)	S2710L	possibly damaging	Het

Other mutations in Pros1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Pros1	APN	16	62,730,408 (GRCm39)	missense	probably damaging	0.99
IGL01300:Pros1	APN	16	62,734,174 (GRCm39)	missense	possibly damaging	0.85
IGL02709:Pros1	APN	16	62,719,308 (GRCm39)	missense	probably damaging	0.99
IGL03080:Pros1	APN	16	62,738,506 (GRCm39)	missense	probably damaging	0.98
IGL03095:Pros1	APN	16	62,728,132 (GRCm39)	nonsense	probably null
F6893:Pros1	UTSW	16	62,745,002 (GRCm39)	missense	probably damaging	0.98
R0124:Pros1	UTSW	16	62,734,309 (GRCm39)	missense	possibly damaging	0.95
R0517:Pros1	UTSW	16	62,723,881 (GRCm39)	missense	probably benign	0.03
R1308:Pros1	UTSW	16	62,734,228 (GRCm39)	missense	probably damaging	0.99
R1355:Pros1	UTSW	16	62,739,921 (GRCm39)	missense	probably benign	0.23
R1370:Pros1	UTSW	16	62,739,921 (GRCm39)	missense	probably benign	0.23
R1517:Pros1	UTSW	16	62,705,875 (GRCm39)	missense	probably damaging	0.98
R1866:Pros1	UTSW	16	62,748,498 (GRCm39)	missense	possibly damaging	0.86
R1876:Pros1	UTSW	16	62,723,881 (GRCm39)	missense	probably damaging	0.96
R2255:Pros1	UTSW	16	62,723,935 (GRCm39)	missense	possibly damaging	0.86
R2364:Pros1	UTSW	16	62,734,211 (GRCm39)	missense	probably damaging	0.99
R2369:Pros1	UTSW	16	62,748,432 (GRCm39)	missense	probably damaging	1.00
R2979:Pros1	UTSW	16	62,734,229 (GRCm39)	missense	probably damaging	0.99
R3724:Pros1	UTSW	16	62,720,692 (GRCm39)	missense	possibly damaging	0.86
R4056:Pros1	UTSW	16	62,721,008 (GRCm39)	nonsense	probably null
R4556:Pros1	UTSW	16	62,721,036 (GRCm39)	missense	possibly damaging	0.95
R4688:Pros1	UTSW	16	62,709,370 (GRCm39)	critical splice donor site	probably null
R4850:Pros1	UTSW	16	62,705,887 (GRCm39)	missense	probably damaging	0.98
R4923:Pros1	UTSW	16	62,723,935 (GRCm39)	missense	possibly damaging	0.86
R5008:Pros1	UTSW	16	62,748,548 (GRCm39)	missense	possibly damaging	0.53
R5370:Pros1	UTSW	16	62,734,339 (GRCm39)	missense	probably benign	0.01
R5580:Pros1	UTSW	16	62,746,689 (GRCm39)	critical splice acceptor site	probably null
R5930:Pros1	UTSW	16	62,748,424 (GRCm39)	missense	probably damaging	0.96
R5974:Pros1	UTSW	16	62,721,030 (GRCm39)	missense	probably damaging	0.98
R6233:Pros1	UTSW	16	62,719,284 (GRCm39)	missense	possibly damaging	0.47
R6949:Pros1	UTSW	16	62,744,938 (GRCm39)	missense	probably benign	0.01
R7055:Pros1	UTSW	16	62,748,465 (GRCm39)	missense	possibly damaging	0.85
R7347:Pros1	UTSW	16	62,739,886 (GRCm39)	missense	probably damaging	0.97
R7375:Pros1	UTSW	16	62,744,913 (GRCm39)	missense	probably damaging	0.96
R7419:Pros1	UTSW	16	62,748,433 (GRCm39)	nonsense	probably null
R7980:Pros1	UTSW	16	62,748,516 (GRCm39)	missense	possibly damaging	0.86
R8234:Pros1	UTSW	16	62,748,540 (GRCm39)	missense	possibly damaging	0.73
R8479:Pros1	UTSW	16	62,728,102 (GRCm39)	missense	probably damaging	1.00
R8514:Pros1	UTSW	16	62,730,472 (GRCm39)	missense	probably benign	0.03
R8827:Pros1	UTSW	16	62,746,827 (GRCm39)	missense	probably benign	0.13
R9131:Pros1	UTSW	16	62,748,397 (GRCm39)	missense	probably damaging	0.96
R9484:Pros1	UTSW	16	62,744,887 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTGCCAGTCCAAGGTGTGAGTG -3'
(R):5'- TGATTCCTGACCTAAAGGGGAGACC -3'

Sequencing Primer
(F):5'- GTTGGGGGAGCCATTGACC -3'
(R):5'- GGGGAGACCCCATAATTCAC -3'

Posted On

2014-01-05